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Genevieve type Spondyloepimetaphyseal dysplasia
Also Known As:
Spondyloepimetaphyseal dysplasia, Genevieve type; SEMD, Genevieve Type
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Disease Context: Research Results
Nervous System Diseases: 14178
Neurologic Manifestations: 7102
Dyskinesias: 7807
Ataxia: 6364
Genevieve type Spondyloepimetaphyseal dysplasia
Neurobehavioral Manifestations: 1586
Intellectual Disability: 8035
Genevieve type Spondyloepimetaphyseal dysplasia
Nervous System Malformations: 35
Malformations of Cortical Development: 376
Group I Malformations of Cortical Development
Microcephaly: 1471
Genevieve type Spondyloepimetaphyseal dysplasia
Signs and Symptoms Pathological Conditions
Signs and Symptoms
Neurologic Manifestations: 7102
Dyskinesias: 7807
Ataxia: 6364
Genevieve type Spondyloepimetaphyseal dysplasia
Neurobehavioral Manifestations: 1586
Intellectual Disability: 8035
Genevieve type Spondyloepimetaphyseal dysplasia
Virilism: 1428
Hirsutism: 2626
Genevieve type Spondyloepimetaphyseal dysplasia
Skin and Connective Tissue Diseases
Skin Diseases: 13127
Hair Diseases: 36
Hirsutism: 2626
Genevieve type Spondyloepimetaphyseal dysplasia
Behavior and Behavior Mechanisms
Neurobehavioral Manifestations: 1586
Intellectual Disability: 8035
Genevieve type Spondyloepimetaphyseal dysplasia
Mental Disorders: 24177
Neurodevelopmental Disorders: 3095
Intellectual Disability: 8035
Genevieve type Spondyloepimetaphyseal dysplasia
Musculoskeletal Diseases: 719
Bone Diseases: 5863
Developmental Bone Diseases: 153
Osteochondrodysplasias: 592
Genevieve type Spondyloepimetaphyseal dysplasia
Musculoskeletal Abnormalities: 43
Craniofacial Abnormalities: 203
Microcephaly: 1471
Genevieve type Spondyloepimetaphyseal dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
Congenital Abnormalities: 25723
Musculoskeletal Abnormalities: 43
Craniofacial Abnormalities: 203
Microcephaly: 1471
Genevieve type Spondyloepimetaphyseal dysplasia
Nervous System Malformations: 35
Malformations of Cortical Development: 376
Group I Malformations of Cortical Development
Microcephaly: 1471
Genevieve type Spondyloepimetaphyseal dysplasia
Inborn Genetic Diseases: 11939
Osteochondrodysplasias: 592
Genevieve type Spondyloepimetaphyseal dysplasia